Genome-wide association study identifies 112 new loci for body mass index in the Japanese population
Open accessAbstract
Obesity is a risk factor for a wide variety of health problems. In a genome-wide association study (GWAS) of body mass index (BMI) in Japanese people (n = 173,430), we found 85 loci significantly associated with obesity (P < 5.0 × 10-8), of which 51 were previously unknown. We conducted trans-ancestral meta-analyses by integrating these results with the results from a GWAS of Europeans and identified 61 additional new loci. In total, this study identifies 112 novel loci, doubling the number of previously known BMI-associated loci. By annotating associated variants with cell-type-specific regulatory marks, we found enrichment of variants in CD19+ cells. We also found significant genetic correlations between BMI and lymphocyte count (P = 6.46 × 10-5, r g = 0.18) and between BMI and multiple complex diseases. These findings provide genetic evidence that lymphocytes are relevant to body weight regulation and offer insights into the pathogenesis of obesity.
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Even when non-European cohorts are only a fraction the size of the largest European study, they are likely to have disproportionate value for predicting polygenic traits in other individuals of similar ancestry.
“These studies have shown that even when non-European cohorts are only a fraction the size of the largest European study, they are likely to have disproportionate value for predicting polygenic traits in other individuals of similar ancestry.”
From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [23]
The Variance explained by variants in the GWAS section (p. 12) reports that variants selected using the Japanese GWAS explained BMI variance in Japanese cohorts better than variants selected using a European GWAS—1.81 times better on average. This supports the value of ancestry-matched data, but the paper tests BMI in Japanese cohorts, not prediction of polygenic traits generally. The passages also do not establish the claimed size comparison with the largest European study. (LLM, conf=0.84)
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Self-citation
- Authors
- Akiyama, M., Okada, Y., Kanai, M., Takahashi, A., Momozawa, Y., Ikeda, M., Iwata, N., Ikegawa, S., Hirata, M., Matsuda, K., Iwasaki, M., Yamaji, T., Sawada, N., Hachiya, T., Tanno, K., Shimizu, A., Hozawa, A., Minegishi, N., Tsugane, S., Yamamoto, M., Kubo, M., & Kamatani, Y.
- Affiliations
- RIKEN Center for Integrative Medical Sciences (JP)
- National Cerebral and Cardiovascular Center (JP)
- Fujita Health University (JP)
- Institute of Medical Science, The University of Tokyo (JP)
- The University of Tokyo (JP)
- National Cancer Centre Japan (JP)
- Iwate Medical University (JP)
- Tohoku University (JP)
- Kyoto University (JP)
- Corresponding author
- Kamatani, Yoichiro
- ORCID
- Akiyama, Masato
- Okada, Yukinori
- Kanai, Masahiro
- Takahashi, Atsushi
- Momozawa, Yukihide
- Ikeda, Masashi
- Iwata, Nakao
- Ikegawa, Shiro
- Hirata, Makoto
- Matsuda, Koichi
- Iwasaki, Motoki
- Yamaji, Taiki
- Sawada, Norie
- Hachiya, Tsuyoshi
- Tanno, Kozo
- Shimizu, Atsushi
- Hozawa, Atsushi
- Minegishi, Naoko
- Tsugane, Shoichiro
- Yamamoto, Masayuki
- Kubo, Michiaki
- Kamatani, Yoichiro
- Venue
- Nature Genetics
- Published
- 2017-09-11
- Volume
- 49
- Issue
- 10
- Pages
- 1458-1467
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2755116403
- Cited by
- 455
- References
- 8
- Citations by year
- 2026: 20 · 2025: 45 · 2024: 46 · 2023: 68 · 2022: 51 · 2021: 51 · 2020: 69 · 2019: 63 · 2018: 38 · 2017: 2
- FWCI
- 31.40
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Kyushu University Institutional Repository (QIR) (Kyushu University) (submittedVersion, other-oa)
- Funders
- Japan Society for the Promotion of Science (15K09464, 16H02676, 17H03596, 15H05911, 17H01557, 15H05670)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
- Keywords
- body mass index, obesity, genetic loci, novel genetic variants, Japanese population, CD19+ B cells, lymphocyte count, genetic correlation, complex diseases, body weight regulation
- MeSH terms
- Body Weight, Diabetes Mellitus, Type 2, Europe, Humans, Japan, Obesity, Comorbidity, Body Mass Index, Lymphocyte Count, Polymorphism, Single Nucleotide, White People, Asian People, Genome-Wide Association Study
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